rs72656343, COL1A1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.882 0.120 17 50186386 stop gained C/A;T snv 0.700 0
Osteogenesis imperfecta, dominant perinatal lethal
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
93 0.882 0.120 17 50186386 stop gained C/A;T snv 0.700 0
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
91 0.882 0.120 17 50186386 stop gained C/A;T snv 0.010 1.000 1 2019 2019